Marisa Wexler, MS, senior science writer —

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Neuren Pharmaceuticals has begun manufacturing of NNZ-2591, an investigational treatment for Angelman syndrome and other diseases, for use in Phase 2 clinical trials. NNZ-2591 is an analogue of cyclic glycine proline (cGP), a peptide (small protein) that naturally exists in the brain and is important for…

Ovid Therapeutics‘ OV101 (gaboxadol) has been granted a rare pediatric disease designation by the U.S. Food and Drug Administration (FDA) for the treatment of Angelman syndrome. This designation is…

Asklepios BioPharmaceutical (AskBio) and the University of North Carolina at Chapel Hill (UNC) have entered into an agreement for the development of a gene therapy for Angelman syndrome. Angelman syndrome is caused by the loss-of-function of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene. The…

A new rat model of Angelman syndrome (AS) involves complete deletion of the maternal UBE3A gene, which causes multiple behavioral and neurological abnormalities. This model could be useful for better understanding AS and for testing new therapies. The study, “Translational outcomes in a full gene deletion of…

A conceptual model describing how Angelman syndrome (AS) tends to manifest and affect a person with Angelman and those around them was described in a recent study. The model and its often age-specific points could be useful in guiding care for Angelman, as well as in designing trials and…

Nutrition is an important but under-discussed aspect of care in Angelman syndrome (AS), according to a case report that described the use of a gastronomy button in a child with the disorder who also had a swallowing dysfunction. The report was published in Lifestyle Genomics and titled “…

A clinical trial is evaluating the safety and tolerability of a nutritional formulation containing the ketone beta-hydroxybutyrate (BHB) as a treatment to help control seizures in children with Angelman syndrome. More information about the trial (NCT03644693), called Nutritional Formulation for Angelman Syndrome (FANS), is available here. The…

A first patient has been randomized in the NEPTUNE trial, which is testing oral OV101 (gaboxadol) as a potential treatment for Angelman syndrome. Ovid, the pharmaceutical company that is developing OV101, made the announcement in a press release. OV101 is a small molecule derived from a component found…